Todd E. Golde, M.D., Ph.D., of the Mayo Medical School, offers some insights into what may lie ahead for the Human Genome project.

An important piece of work that is ongoing and will continue is the correlating of clinical information and the mapping of the genome. A genotype refers to the genes one inherits; a phenotype describes how those genes are expressed. By identifying phenotypes that represent patterns of disease and noting the occurrence of those phenotypes in large populations or even large families, scientists can then go back and correlate those phenotypes with the genotypes the people with the disease possess. Although the issue of "genetic privacy" arises (i.e., who has the right to know that a person has inherited genes that could possibly correlate with future illness), Dr. Golde points out that ethical researchers can collect this extremely valuable data without jeopardizing their subjects' right to that genetic privacy.

Dr. Golde also notes that the mapping of the human genome will help hone in on just what genes are linked with what diseases in a more rapid fashion. Rather than focus on slowly teasing out one or a very few specific genes that can cause a disease, scientists can now identify regions of 50-100 genes that correlate with a given disease. They can then look for patterns of variance in inheritance within that grouping of 50-100 genes and more easily "cone down" on the genes that are the best candidates as causes of specific diseases.

A third area that the Human Genome Project will continue to focus on is proteomics, the determination of just what proteins are produced by just what genes. This has important clinical ramifications. Many diseases are known to be associated with specific abnormal proteins; the mapping of the genome will allow scientists to learn which genes code for those abnormal proteins.

The work of the Human Genome Project, far from being almost complete, is in fact just beginning, and its potential for a greater understanding of human disease and health is enormous.